Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Transthyretin-related familial amyloidotic polyneuropathy: description of a cohort of patients with Leu64 mutation and late onset.

Journal of the peripheral nervous system : JPNS - 1 Dec 2012

Russo Massimo, Mazzeo Anna, Stancanelli Claudia, Di Leo Rita, Gentile Luca, Di Bella Gianluca, Minutoli Fabio, Baldari Sergio, Vita Giuseppe

Abstract excerpt

Transthyretin-related familial amyloidotic polyneuropathy (TTR-FAP) usually presents itself as a progressive sensorimotor polyneuropathy with severe autonomic dysfunction and cardiomyopathy. Eighteen patients carrying the Leu64 mutation underwent a series of regular follow-ups, including: neurological examination, electroneurography, electromyography, electrocardiography and echocardiography, blood analysis, a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amyloid Neuropathies, Familial
Share to Autonomic Nervous System Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diphosphonates

Share to Electromyography

Share to Hereditary Sensory and Motor Neuropathy

Share to Neurologic Examination

Share to Radionuclide Imaging

Share to Radiopharmaceuticals

Source

Identifiers

PMID: 23279339
DOI: 10.1111/j.1529-8027.2012.00436.x

Genes

FAP
TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Transthyretin-related familial amyloidotic polyneuropathy: description of a cohort of patients with Leu64 mutation and late onset.PMID 23279339Read ↗

Transthyretin familial amyloid polyneuropathy: an update.Semantic proximity Read ↗

Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic AreaSemantic proximity Read ↗

Familial amyloidosis with polyneuropathy type 1 caused by transthyretin mutation Val50Met (Val30Met): 4 cases in a non-endemic area.Semantic proximity Read ↗

[A late onset familial amyloidotic polyneuropathy (FAP) with a novel variant transthyretin characterized by a basic-for-acidic amino acid substitution (Glu61-->Lys)].Semantic proximity Read ↗

[Familial amyloidotic polyneuropathies].Semantic proximity Read ↗

Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey.Semantic proximity Read ↗

Cardiovascular autonomic failure in hereditary transthyretin amyloidosis and TTR carriers is an early and progressive disease markerSemantic proximity Read ↗

A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study.Semantic proximity Read ↗

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation.Semantic proximity Read ↗

Clinical features of TTR-FAP in PortugalSemantic proximity Read ↗

TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients.Semantic proximity Read ↗

Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: Two years of experience in a neurological clinicSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.